Genomics England
GMS Panels
Panels
Genes and Entities

MAGEL2

MAGE family member L2
OMIM: 605283
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.21
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, OMIM:615547, Prader-Willi-Like syndrome
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, OMIM:615547, Schaaf-Yang syndrome, MONDO:0014243
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, OMIM:615547
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Schaaf-Yang syndrome, ARTHROGRYPOSIS MULTIPLEX CONGENITA, Schaaf-Yang syndrome, 615547
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
PRADER WILLI SYNDROME